| Primary Identifier | MGI:1354951 | Organism | mouse, laboratory |
| Chromosome | 4 | NCBI Gene Number | 50798 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables N-acylmannosamine kinase activity and UDP-N-acetylglucosamine 2-epimerase activity. Involved in CMP-N-acetylneuraminate biosynthetic process and N-acetylneuraminate biosynthetic process. Is active in cytosol. Is expressed in several structures, including alimentary system; brain; genitourinary system; hemolymphoid system; and respiratory system. Human ortholog(s) of this gene implicated in GNE myopathy; sialuria; and thrombocytopenia. Orthologous to human GNE (glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase). PHENOTYPE: Homozygous inactivation of this gene causes a block in sialic acid biosynthesis and early embryonic lethality. Mice expressing the p.V572L mutation show features similar to distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy. Homozygosity for the p.P735R mutation affects angiogenesis, causing embryonic brain hemorrhages, and is embryonic lethal. [provided by MGI curators] |
Features --> Cross References
Canonical gene --> CDSs in specific strains.
Canonical gene --> Exons in specific strains
Canonical gene --> Strain-specific IDs, biotypes, and locations
Canonical gene --> Transcripts in specific strains.
Features --> Overlapping features
